ClinVar Miner

Submissions for variant NM_022173.4(TIA1):c.953A>G (p.Gln318Arg) (rs115611153)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000245769 SCV000314024 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000986766 SCV000630384 benign Welander distal myopathy 2020-12-07 criteria provided, single submitter clinical testing
Mendelics RCV000986766 SCV001135883 likely benign Welander distal myopathy 2019-05-28 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573472 SCV001799398 likely benign not provided no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.